Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.S171fs
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CYP21A2

NM_000500.9:p.S171fs

Associated Papers

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.

Simonetti L et al.

Human Mutation, 2018

Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.

Prado MJ et al.

Molecular Diagnosis & Therapy, 2017

Detection and assignment of CYP21 mutations using peptide mass signature genotyping.

Zeng X et al.

Molecular Genetics and Metabolism, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."